Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening

Pediatrics

Volumn 128, Issue 1, 2011, Pages

  Sarafoglou, Kyriakie ^a   Matern, Dietrich ^b   Redlinger Grosse, Krista ^a   Bentler, Kristi ^a   Gaviglio, Amy ^c   Harding, Cary O ^d   Rinaldo, Piero ^b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b Mayo Clinic   (United States)

^c MINNESOTA DEPARTMENT OF HEALTH   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

ketothiolase deficiency metabolic ketoacidosis; Mitochondrial acetoacetyl CoA thiolase deficiency; Newborn screening; Tiglylcarnitine; Tiglylglycine

Indexed keywords

2 METHYLACETOACETIC ACID; 2 METHYLBUTYRIC ACID; ACETOACETIC ACID; ACETYL COENZYME A ACETYLTRANSFERASE; ACETYLCARNITINE; ACYLCARNITINE; ALLOISOLEUCINE; AMMONIA; BICARBONATE; BUTYRIC ACID; CARNITINE; GLUCOSE; LACTIC ACID; UNCLASSIFIED DRUG;

ARTICLE; CARBOHYDRATE INTAKE; CASE REPORT; CHILD; DIET SUPPLEMENTATION; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FEMALE; GASTROENTERITIS; GLUCOSE BLOOD LEVEL; HUMAN; HUMAN TISSUE; INTELLIGENCE QUOTIENT; KETOACIDOSIS; KETONURIA; MALE; MITOCHONDRIAL ACETYL COENZYME A ACETYLTRANSFERASE DEFICIENCY; NEWBORN SCREENING; PH; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN RESTRICTION; RESPIRATORY SYNCYTIAL VIRUS INFECTION; SIBLING; SKIN BIOPSY; TANDEM MASS SPECTROMETRY; URINALYSIS;

ACETYL-COA C-ACYLTRANSFERASE; CHILD, PRESCHOOL; FALSE NEGATIVE REACTIONS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING;

EID: 79959939006     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2010-3918     Document Type: Article

References (10)

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